Expressive

rs10795791 - IL2RA - RPL32P23

Magnitude 2.2 · 6 studies on file

Reported associations

  • Genome-wide meta-analysis in lichen sclerosus identifies 14 genomic risk loci. - The British journal of dermatology (2026) · Dand N, Rayinda T, Silz E, Thomas LF, Saklatvala JR, McSweeney SM, Ung CY, Christou E, Lewis F, Kettunen J, Huilaja L, Brumpton BM, Hveem K, Løset M, Tasanen K, McGrath JA, Simpson MA, Tziotzios C · PubMed 41850335

    Lichen sclerosus (LS) is a common and highly debilitating chronic inflammatory dermatosis that primarily affects genital skin in both females and males. Despite the utility of large genetic studies to reveal pathogenic mechanisms and suggest novel therapeutic targets, the genetic basis of LS remains largely unstudied. To identify genomic loci at which common genetic variation influences LS susceptibility and establish associated pathogenic mechanisms. Sex-stratified genome-wide association studies of genital LS were performed in three European biobanks (UK Biobank, the Trøndelag Health Study [HUNT] and FinnGen). LS cases were primarily identified via linked electronic health records from primary and/or secondary care. In total 6,681 female cases and 407,255 controls were included, with 97

  • Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia. - American journal of human genetics (2021) · Kachuri L, Jeon S, DeWan AT, Metayer C, Ma X, Witte JS, Chiang CWK, Wiemels JL, de Smith AJ · PubMed 34469753

    Acute lymphoblastic leukemia (ALL) is the most common childhood cancer. Despite overlap between genetic risk loci for ALL and hematologic traits, the etiological relevance of dysregulated blood-cell homeostasis remains unclear. We investigated this question in a genome-wide association study (GWAS) of childhood ALL (2,666 affected individuals, 60,272 control individuals) and a multi-trait GWAS of nine blood-cell indices in the UK Biobank. We identified 3,000 blood-cell-trait-associated (p < 5.0 × 10 ) variants, explaining 4.0% to 23.9% of trait variation and including 115 loci associated with blood-cell ratios (LMR, lymphocyte-to-monocyte ratio; NLR, neutrophil-to-lymphocyte ratio; PLR, platelet-to-lymphocyte ratio). ALL susceptibility was genetically correlated with lymphocyte counts (r

  • High-Density Genotyping of Immune Loci in Koreans and Europeans Identifies Eight New Rheumatoid Arthritis Risk Loci - Unknown journal (n.d.) · Unknown authors · PubMed 24532676

    ABSTRACT: Objective A highly polygenic etiology and high degree of allele-sharing between ancestries have been well-elucidated in genetic studies of rheumatoid arthritis. Recently, the high-density genotyping array Immunochip for immune disease loci identified 14 new rheumatoid arthritis risk loci among individuals of European ancestry. Here, we aimed to identify new rheumatoid arthritis risk loci using Korean-specific Immunochip data. Methods We analyzed Korean rheumatoid arthritis case-control samples using the Immunochip and GWAS array to search for new risk alleles of rheumatoid arthritis with anti-citrullinated peptide antibodies. To increase power, we performed a meta-analysis of Korean data with previously published European Immunochip and GWAS data, for a total sample size of 9,299

  • High density genetic mapping identifies new susceptibility loci for rheumatoid arthritis - Unknown journal (n.d.) · Unknown authors · PubMed 23143596

    ABSTRACT: Summary Using the Immunochip custom single nucleotide polymorphism (SNP) array, designed for dense genotyping of 186 genome wide association study (GWAS) confirmed loci we analysed 11,475 rheumatoid arthritis cases of European ancestry and 15,870 controls for 129,464 markers. The data were combined in meta-analysis with GWAS data from additional independent cases (n=2,363) and controls (n=17,872). We identified fourteen novel loci; nine were associated with rheumatoid arthritis overall and 5 specifically in anti-citrillunated peptide antibody positive disease, bringing the number of confirmed European ancestry rheumatoid arthritis loci to 46. We refined the peak of association to a single gene for 19 loci, identified secondary independent effects at six loci and association to lo

  • Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers - Unknown journal (n.d.) · Unknown authors · PubMed 25751624

    ABSTRACT: Genetic studies of type 1 diabetes (T1D) have identified 50 susceptibility regions (www.T1DBase.org) revealing major pathways contributing to risk, with some loci shared across immune disorders. In order to make genetic comparisons across autoimmune disorders as informative as possible a dense genotyping array, the ImmunoChip, was developed, from which four novel T1D regions were identified (P < 5 × 10−8). A comparative analysis with 15 immune diseases (www.ImmunoBase.org) revealed that T1D is more similar genetically to other autoantibody-positive diseases, most significantly to juvenile idiopathic arthritis and least to ulcerative colitis, and provided support for three additional novel T1D loci. Using a Bayesian approach, we defined credible sets for the T1D SNPs. These T1D

  • The Polygenic and Monogenic Basis of Blood Traits and Diseases - Unknown journal (n.d.) · Unknown authors · PubMed 32888494

    ABSTRACT: Summary Blood cells play essential roles in human health, underpinning physiological processes such as immunity, oxygen transport, and clotting, which when perturbed cause a significant global health burden. Here we integrate data from UK Biobank and a large-scale international collaborative effort, including data for 563,085 European ancestry participants, and discover 5,106 new genetic variants independently associated with 29 blood cell phenotypes covering a range of variation impacting hematopoiesis. We holistically characterize the genetic architecture of hematopoiesis, assess the relevance of the omnigenic model to blood cell phenotypes, delineate relevant hematopoietic cell states influenced by regulatory genetic variants and gene networks, identify novel splice-altering v

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